Familial primary pulmonary hypertension (PPH) is a rare, fatal, autosomal dominant disease that results in right heart failure from idiopathic obliteration of the pulmonary arteries. Patients develop stagnation of venous blood flow and elevated venous pressure.
The authors retrospectively reviewed the clinical records of three patients diagnosed with PPH that was confirmed on the basis of physical examination, chest X-ray, electrocardiogram, and echocardiogram. Cardiac catheterization excluded cardiac shunt and other secondary causes of pulmonary hypertension.
Two patients presented with a clinical picture resembling venous stasis retinopathy, and one with bilateral choroidal detachments. Two patients had delayed choroidal filling on fluorescein angiography, which was confirmed in one patient with indocyanine green videoangiography.
Elevated venous pressure found in PPH is responsible for the delayed choroidal perfusion and the reduced venous blood outflow. This explains the clinical findings of venous stasis retinopathy and choroidal detachments seen in these patients.